Pallister-Hall syndrome Pallister-Killian syndrome (tetrasomy 12p, Teschler-Nicola syndrome) Periodic paralysis Phenylketonuria (PKU) Polycystic kidney disease Popliteal
[kumc.edu]
Opitz syndromes [Opitz-Frias, Opitz FG (Opitz-Kaveggia), Opitz-C (Trigonocephaly)] Organic acidemias Osler-Weber-Rendu syndrome Osteogenesis imperfecta Oxalosis & hyperoxaluria
[kumc.edu]
[…] neuro-metabolic, neurogenetics, neuromuscular, CADASIL, Huntington disease, other) Neurofibromatosis (von Recklinghausen) Neuromuscular conditions Niemann-Pick disease Noonan syndrome
[kumc.edu]